ClinVar Miner

List of variants in gene FBN2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 599
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HGVS dbSNP
GRCh37/hg19 5q23.3(chr5:127744084-127866529)x1
GRCh38/hg38 5q23.3(chr5:128288872-128630392)x3
GRCh38/hg38 5q23.3(chr5:128434801-128486349)x1
NC_000005.10:g.128538265G>T rs142885655
NC_000005.10:g.128538274A>G rs138741640
NC_000005.10:g.128538300G>C rs141359565
NM_001999.4(FBN2):c.-17C>G rs372089451
NM_001999.4(FBN2):c.-24G>C rs190369608
NM_001999.4(FBN2):c.-262C>T rs540026322
NM_001999.4(FBN2):c.-33C>A rs1057521647
NM_001999.4(FBN2):c.-435C>T rs78230270
NM_001999.4(FBN2):c.-511G>A rs7712942
NM_001999.4(FBN2):c.-625G>C rs147684576
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu) rs863223548
NM_001999.4(FBN2):c.1078+12A>C rs769211487
NM_001999.4(FBN2):c.1078+20G>A rs1057524321
NM_001999.4(FBN2):c.1079-14T>G rs754310681
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg) rs771054241
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121
NM_001999.4(FBN2):c.1167C>T (p.Cys389=) rs757599652
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val) rs863223549
NM_001999.4(FBN2):c.1231+37C>G rs28763953
NM_001999.4(FBN2):c.1232-252A>G rs76328881
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg) rs863223550
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val) rs863223551
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933
NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3]) rs863223593
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.142C>A (p.Arg48=) rs1409799200
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1453A>G (p.Ile485Val) rs772773731
NM_001999.4(FBN2):c.1465+271A>G rs76462170
NM_001999.4(FBN2):c.1465+54A>G rs73345284
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.1466-5C>T rs28763952
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1607_1609del (p.Val536del) rs863223594
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1724-4C>A rs886432251
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr) rs863223552
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile) rs770876270
NM_001999.4(FBN2):c.1849+12G>A rs777910433
NM_001999.4(FBN2):c.1849+149A>G rs112258148
NM_001999.4(FBN2):c.1849+96G>A rs116773938
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214
NM_001999.4(FBN2):c.1922G>A (p.Cys641Tyr) rs863223555
NM_001999.4(FBN2):c.1924A>G (p.Ile642Val) rs863223598
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1973-20T>C rs774598343
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668
NM_001999.4(FBN2):c.2029G>A (p.Glu677Lys) rs753334611
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.2095+7_2095+22delinsT rs1064794511
NM_001999.4(FBN2):c.2096-13del rs746826953
NM_001999.4(FBN2):c.2096-224A>G rs331098
NM_001999.4(FBN2):c.2096-256G>A rs115515304
NM_001999.4(FBN2):c.2096-306A>C rs115985327
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419
NM_001999.4(FBN2):c.2155T>C (p.Phe719Leu) rs863223557
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502
NM_001999.4(FBN2):c.2248+283A>G rs144388289
NM_001999.4(FBN2):c.2249-15C>A rs759195113
NM_001999.4(FBN2):c.2249-195T>C rs140295103
NM_001999.4(FBN2):c.2249-19A>G rs193091226
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2302+260T>G rs1428632
NM_001999.4(FBN2):c.2303-276G>T rs552850
NM_001999.4(FBN2):c.2303-284T>C rs114102715
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs) rs1554063788
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser) rs1057524398
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+6T>A rs77493726
NM_001999.4(FBN2):c.2429-11G>A rs201849584
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.254+274T>C rs73348280
NM_001999.4(FBN2):c.254+303C>G rs73348278
NM_001999.4(FBN2):c.254+322G>A rs567063128
NM_001999.4(FBN2):c.255-15G>A rs587780942
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2555-184T>G rs62375019
NM_001999.4(FBN2):c.2555-287A>T rs3816905
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999
NM_001999.4(FBN2):c.2674+10A>G rs371734006
NM_001999.4(FBN2):c.2674+147A>G rs27457
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2687G>A (p.Gly896Glu) rs767271613
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.2717G>T (p.Arg906Leu) rs370973542
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093
NM_001999.4(FBN2):c.2812+182A>G rs151987
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2863+23G>T rs255690
NM_001999.4(FBN2):c.2864-102T>C rs114090698
NM_001999.4(FBN2):c.2864-12A>G rs1234935460
NM_001999.4(FBN2):c.2878G>A (p.Glu960Lys) rs876661212
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.4(FBN2):c.2989+14C>T rs775432537
NM_001999.4(FBN2):c.2989+20G>A rs374450061
NM_001999.4(FBN2):c.2990-14C>T rs377500777
NM_001999.4(FBN2):c.2990-298C>T rs468182
NM_001999.4(FBN2):c.2990-7G>C rs1245936560
NM_001999.4(FBN2):c.2990-8C>T rs370825177
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3088G>C (p.Gly1030Arg) rs863223600
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369
NM_001999.4(FBN2):c.3116A>T (p.Glu1039Val) rs1057524269
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3217+13G>A rs572013507
NM_001999.4(FBN2):c.3217+13G>C rs572013507
NM_001999.4(FBN2):c.3217+18G>A rs1554123696
NM_001999.4(FBN2):c.3217+231G>A rs468026
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=) rs1345516642
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030
NM_001999.4(FBN2):c.3281G>A (p.Gly1094Glu) rs863223563
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3343+266G>A rs141806441
NM_001999.4(FBN2):c.3344-264G>A rs115736330
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.3360G>T (p.Arg1120Ser) rs863223564
NM_001999.4(FBN2):c.337+185A>G rs76039082
NM_001999.4(FBN2):c.338-89C>A rs58297481
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+17C>A rs747730357
NM_001999.4(FBN2):c.3473-318C>T rs27859
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646
NM_001999.4(FBN2):c.3566A>C (p.His1189Pro) rs863223566
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3598+40A>G rs182112935
NM_001999.4(FBN2):c.3599-119T>C rs32221
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931
NM_001999.4(FBN2):c.3685C>T (p.Pro1229Ser) rs772682329
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.3700A>G (p.Thr1234Ala) rs745525613
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987
NM_001999.4(FBN2):c.3709C>A (p.Arg1237Ser) rs746570981
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797
NM_001999.4(FBN2):c.3724+2T>C rs863223570
NM_001999.4(FBN2):c.3724+57C>T rs75170825
NM_001999.4(FBN2):c.3725-2del rs1554122858
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467
NM_001999.4(FBN2):c.3847+1G>T rs863223604
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246
NM_001999.4(FBN2):c.3973+96_3973+98del rs547745692
NM_001999.4(FBN2):c.3974-19T>C rs112950479
NM_001999.4(FBN2):c.3974-67G>A rs28763944
NM_001999.4(FBN2):c.3976G>A (p.Val1326Ile) rs763789417
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929
NM_001999.4(FBN2):c.4087A>G (p.Thr1363Ala) rs863223571
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4100-216C>A rs458882
NM_001999.4(FBN2):c.4100-265G>A rs32235
NM_001999.4(FBN2):c.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg) rs863223606
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.4222+10C>A rs376700480
NM_001999.4(FBN2):c.4222+12A>G rs79445561
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4223-14G>T rs370506719
NM_001999.4(FBN2):c.4223-178A>G rs469722
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.4345+183A>G rs469913
NM_001999.4(FBN2):c.4345+324T>C rs116561386
NM_001999.4(FBN2):c.4345+329C>T rs467928
NM_001999.4(FBN2):c.436+16G>A rs372098570
NM_001999.4(FBN2):c.436+20C>T rs1168120609
NM_001999.4(FBN2):c.437-162A>G rs114070767
NM_001999.4(FBN2):c.4375C>G (p.Leu1459Val) rs863223573
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4472-11A>T rs528062851
NM_001999.4(FBN2):c.4472-12T>A rs551686237
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.4474A>T (p.Ile1492Phe) rs775167440
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr) rs863223608
NM_001999.4(FBN2):c.4550G>A (p.Cys1517Tyr) rs1057521951
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4595-11G>C rs199640787
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460
NM_001999.4(FBN2):c.4646A>G (p.Asn1549Ser) rs863223575
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+25_4717+28del rs1064795498
NM_001999.4(FBN2):c.4717+285T>C rs414540
NM_001999.4(FBN2):c.4718-13T>C rs10044959
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237
NM_001999.4(FBN2):c.4879+138C>T rs461146
NM_001999.4(FBN2):c.4879+269T>C rs10076728
NM_001999.4(FBN2):c.4879+7A>G rs555328744
NM_001999.4(FBN2):c.4880-12A>G rs376111927
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4949-18C>G rs372234336
NM_001999.4(FBN2):c.4949-3T>A rs863223576
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.5074+298A>T rs612993
NM_001999.4(FBN2):c.5075-7A>C rs946913190
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5196C>T (p.Cys1732=) rs1554120180
NM_001999.4(FBN2):c.5200+11A>C rs863223545
NM_001999.4(FBN2):c.5200+148A>G rs76244360
NM_001999.4(FBN2):c.5200+286A>G rs10040006
NM_001999.4(FBN2):c.5201-196A>T rs469294
NM_001999.4(FBN2):c.5201-3T>C rs1057521162
NM_001999.4(FBN2):c.5201-6A>G rs879942478
NM_001999.4(FBN2):c.525T>A (p.Cys175Ter) rs863223547
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876
NM_001999.4(FBN2):c.533-4G>T rs372596001
NM_001999.4(FBN2):c.533-6A>G rs56400997
NM_001999.4(FBN2):c.533-92A>G rs112355068
NM_001999.4(FBN2):c.533-96_533-92del rs3059402
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5353+11G>A rs572393472
NM_001999.4(FBN2):c.5353+16G>A rs187448568
NM_001999.4(FBN2):c.5353+19C>T rs183524866
NM_001999.4(FBN2):c.5353+20A>G rs759401474
NM_001999.4(FBN2):c.5422+154G>A rs17839648
NM_001999.4(FBN2):c.5423-276G>T rs32220
NM_001999.4(FBN2):c.5424C>T (p.Asp1808=) rs774758393
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met) rs756365546
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5548+20T>C rs372334617
NM_001999.4(FBN2):c.5548+9A>C rs1057522115
NM_001999.4(FBN2):c.5549-18G>A rs371995872
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5674+18T>G rs199749609
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632
NM_001999.4(FBN2):c.5675-87T>C rs27855
NM_001999.4(FBN2):c.5675-9C>T rs27713
NM_001999.4(FBN2):c.5675-9del rs112666443
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg) rs1554119710
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu) rs1064796980
NM_001999.4(FBN2):c.5896A>G (p.Thr1966Ala) rs863223579
NM_001999.4(FBN2):c.5914C>T (p.Leu1972=) rs1554119518
NM_001999.4(FBN2):c.5917+112A>G rs28763937
NM_001999.4(FBN2):c.5917+201T>A rs26023
NM_001999.4(FBN2):c.5917+201T>G rs26023
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-327C>T rs12523609
NM_001999.4(FBN2):c.5918-5T>A rs1057524021
NM_001999.4(FBN2):c.5950G>A (p.Val1984Met) rs1064796333
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6252C>T (p.Pro2084=) rs1057524589
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.628+118A>T rs6886186
NM_001999.4(FBN2):c.628+208G>A rs6864831
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933
NM_001999.4(FBN2):c.629-19T>C rs374428361
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6292+12C>A rs10042349
NM_001999.4(FBN2):c.6292+303A>T rs6871353
NM_001999.4(FBN2):c.6293-308C>T rs11241955
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839
NM_001999.4(FBN2):c.631T>G (p.Tyr211Asp) rs1554071528
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321
NM_001999.4(FBN2):c.6445+11T>C rs766726816
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914
NM_001999.4(FBN2):c.6511+15A>G rs56131649
NM_001999.4(FBN2):c.6511+4C>T rs368610241
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6512-17G>C rs28763932
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-7A>G rs201462445
NM_001999.4(FBN2):c.6534C>T (p.Ser2178=) rs1057524084
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586
NM_001999.4(FBN2):c.6546T>G (p.Cys2182Trp) rs1554118137
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6556C>T (p.Gln2186Ter) rs1415043313
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6637+39A>G rs17608435
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607
NM_001999.4(FBN2):c.6689A>G (p.Asn2230Ser) rs863223584
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>A (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6757+309A>T rs6884264
NM_001999.4(FBN2):c.6757+3A>G rs1057523248
NM_001999.4(FBN2):c.6758-308A>G rs42280
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6880+17G>A rs2042327
NM_001999.4(FBN2):c.6881-107C>T rs10070948
NM_001999.4(FBN2):c.6881-206G>T rs11746935
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769
NM_001999.4(FBN2):c.6923G>A (p.Arg2308Lys) rs765129486
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613
NM_001999.4(FBN2):c.6955T>C (p.Phe2319Leu) rs863223585
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292
NM_001999.4(FBN2):c.7012+6C>T rs749376421
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7013-18T>C rs375140877
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7013-7T>A rs191729449
NM_001999.4(FBN2):c.7013-7del rs1554117268
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7139-33G>A rs199889927
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476
NM_001999.4(FBN2):c.7167G>A (p.Glu2389=) rs761050040
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.71A>G (p.Gln24Arg) rs764396688
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7293C>T (p.Ala2431=) rs1057521075
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428
NM_001999.4(FBN2):c.7345G>A (p.Asp2449Asn) rs759198660
NM_001999.4(FBN2):c.7346-196C>T rs140756341
NM_001999.4(FBN2):c.7346-94G>C rs426987
NM_001999.4(FBN2):c.7369C>T (p.Pro2457Ser) rs863223587
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7471+21A>G rs28763924
NM_001999.4(FBN2):c.7471+273C>A rs255695
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.7472-17A>G rs773888786
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu) rs766586054
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.4(FBN2):c.7594+12G>A rs184678810
NM_001999.4(FBN2):c.7594+231T>A rs1428633
NM_001999.4(FBN2):c.7595-139A>G rs73341402
NM_001999.4(FBN2):c.7595-13T>C rs747620496
NM_001999.4(FBN2):c.7595-18G>C rs1554116721
NM_001999.4(FBN2):c.7595-8A>G rs878854479
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val) rs863223588
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7711+257G>A rs2307108
NM_001999.4(FBN2):c.7712-5G>A rs766722063
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.4(FBN2):c.7840+288A>G rs72785104
NM_001999.4(FBN2):c.7841-16G>T rs201231807
NM_001999.4(FBN2):c.7841-17C>T rs371643668
NM_001999.4(FBN2):c.7841-322T>C rs75856965
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758
NM_001999.4(FBN2):c.7960+13T>G rs1023942727
NM_001999.4(FBN2):c.7960+208C>T rs73341388
NM_001999.4(FBN2):c.7960+5G>A rs863223590
NM_001999.4(FBN2):c.7961-10G>A rs752746367
NM_001999.4(FBN2):c.7961-19T>A rs1057524211
NM_001999.4(FBN2):c.7977C>G (p.Ser2659=) rs1057524372
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8192+244C>T rs41298328
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+8G>A rs184132548
NM_001999.4(FBN2):c.8193-18T>A rs1057521159
NM_001999.4(FBN2):c.8193-6A>G rs371741283
NM_001999.4(FBN2):c.8193-7C>G rs754837805
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484
NM_001999.4(FBN2):c.827-263G>T rs141194324
NM_001999.4(FBN2):c.827-279G>A rs150728994
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.4(FBN2):c.8364+18dup rs752497923
NM_001999.4(FBN2):c.8364+43A>G rs28763919
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr) rs751287011
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro) rs863223614
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615
NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter) rs876661196
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+11C>T rs1157854895
NM_001999.4(FBN2):c.953-333G>A rs3805648
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.973A>G (p.Ile325Val) rs748879016
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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